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In recent years, health care professionals have been experiencing more and more difficulty effectively treating pneumonia. This is due to the development of drug-resistant strains of the illness. Growing gaps between supply and demand in effective treatment has not helped doctors either.

This is why Kenta Biotech’s new product KBSA301 is exciting for those involved in pneumonia treatment. KBSA301 is the first human antibody being developed to treat pneumonia. This new drug will work in a different way than traditional method – by helping a person’s body to fight off infection instead of just treating with antibiotics after the fact.

KBSA301 will help decrease the number of people who die as a result of severe pneumonia, as well as speed up recovery time for patients. The European Commission has designated the treatment as an orphan drug – a title that will help Kenta Biotech get it to market more quickly, besides other monetary and patent benefits for the company.

Franco Merckling of Kenta Biotech is enthused about the development, commenting "This European orphan drug designation represents an important milestone for our company…It will allow us to benefit from free scientific advice from the European Medicines Agency (EMA) and will therefore significantly facilitate the direction of our clinical development and the subsequent filing of our registration dossier".

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Are you involved in the orphan drug field? Check out our World Orphan Drug Congress USA, taking place this April in Washington, D.C.

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Jody Corey-Bloom, MD, PhD of the Multiple Sclerosis Center at the University of California San Diego, is the researcher in charge of a study on the effects of marijuana on sufferers of MS. This study has recently released findings that marijuana has the potential to help ease spasticity and pain associated with MS. Patients who were giving cannabis instead of a placebo showed a significant lessening in the occurrence of these symptoms.

This study differed from previously conducted ones, as those under observation were asked to smoke the cannabis instead of oral administration of the herb. Symptoms were assessed using the Ashford scale, a visual analogue scale, and by timing how long it took patients to walk a certain distance.

While the goal of this study was to observe the benefits of cannabis on MS sufferers, researchers also noted the effects on mental status, namely "reduced cognitive function on concentration and attention span". Along with more extensive studies to confirm the results of this most recent one, researchers also plan to test whether lower doses of marijuana could produce the same benefits with fewer negative side effects.

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Are you involved in the rare disease industry? If so, check out our World Orphan Drug Congress USA, taking place this April in Washington, D.C.

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This Tuesday, May 15, the National Organization for Rare Disorders will hold the awards ceremony for its Partners in Progress Celebration. The ceremony will be held at Union Station in Washington, D.C.

NORD will acknowledge those who have made a difference in the field of rare disease treatment. "Members of the U.S. Congress, patient advocates, medical researchers and companies" that have worked to make progress and help those affected by rare diseases will be celebrated.

Peter L. Saltonstall of NORD commented, “This is NORD’s opportunity to celebrate excellence and to say thank you on behalf of the patient community to those who have advanced the cause during the previous year…We look forward to this event each year, and we truly appreciate the accomplishments it honors."

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Involved in the rare disease field? Check out out World Orphan Drug Congress USA 2013, taking place April in Washington, D.C.

But what are the major challenges to translating rare disease research into a clinical context to therefore demonstrate safety and efficacy of a rare disease treatment?

• Understanding the variation of the disease within a population.
• Deep knowledge of the natural history of disease
• Identification of and access to human clinical samples and patient populations
• Overcoming the rarity itself and lack of knowledge
• Regulatory requirements for clinical design, endpoints and measurements maintained same as for drugs not designated as orphans.
• How predictable is the preclinical model?
• Overcoming the limited amount of data
• (In a commercial setting) evaluating the financial viability of the potential product.
• Understanding natural progression of disease in order to develop protocols and size trials.
• Restrictions surrounding data or patient registries
• Getting clarity on the appropriate biomarkers to show success in humans
• Different expectations of various global regulatory bodies.
• The need for an electronic database system would simplify the processes
• Gaining funding and capital investment into your innovation
• The level of need for data in application. Is data in in vivo models sufficient or is human data required?
• Identifying the application of your discovery, then obtaining orphan designation for the rare disease indication

As a follow on, why not take a look at some of our respondents when we asked them what are the benefits of adaptive clinical trial design?

You can also read up on what are the major challenges of orphan drug clinical trial design.

Innovation of orphan drugs

• Capital availability and patient enrolment
• Strategic alignment with patient advocacy groups
• Understanding biology of disease and biology of the therapeutic
• Having molecular tools or biomarkers to evaluate disease and impact of therapeutic early in the clinic
• Setting the appropriate regulatory strategy and vetting early and often with regulatory authorities.
• Adaptive clinical development plans
• Use of clinical markers
• Rigorous Phase 2a with solid PK/PD and biomarker data.
• You must asses safety first but the benefits must outweigh the risks but people should be able to have options
• Working with key experts in the chosen rare disease field
• Optimizing dosing regimens and route of administration
• Strategic partnerships
• Drug device combinations

Comments are welcome below if you want to add to these findings.

Click here for David Meeker, CEO, Genzyme’s presentation on how Genzyme created the critical elements of orphan drug success.

The World Orphan Drug Congress 2012 will now be split into 3 tracks to focus on 3 distinct areas of orphan drug development – Clinical Development; Corporate & Strategic Development; Market Access, Pricing & Reimbursement

While there is no one-solution-fits-all answer to successful drug development, here are some key points to bear in mind and potential mistakes to avoid in order to achieve late stage success for your orphan product.

· Make sure you present clear endpoints for you trial.

· Patient exaggeration of benefit.

· Not discussing regulatory strategy with regulatory authorities early enough in the process

· Incorrectly assuming there is a lower bar for demonstrating efficacy in orphan diseases

· Preparing the various stakeholders well in advance

· Forget to make a strong sales partnering globally before drug approval

· Not assessing outside factors that might contribute to patients decline – how can you monitor his lifestyle, food or medication.

· No support from patient advocacy groups and not engaging the patient community.

· Not having patients involved from the get-go & driving the study

· Switching or widening label to early

If you think the list needs up dating and there are glaring mistakes that you feel need to be avoided, we welcome your comments below.

In the meantime, take a look at recommended strategies to put in place to avoid late stage attrition rates during orphan drug development

We surveyed and accumulated a list of the major benefits gained when executing an adaptive clinical design strategy for their lead orphan product:

· Flexibility of clinical pathway and secondary endpoint in particular

· Prompt development

· Adaptively adjust power/size of a registration trial.

· Perceived higher chance of success

· Faster time to approval with lower cost

· Ability to use fewer subjects with more transparency of what is acceptable to regulatory agencies

· Cast a wide net during the clinical trial stage while conserving cost efficiencies & not breaking the bank or going belly up in the process

The World Orphan Drug Congress 2012 has a dedicated 2 day stream on orphan drug clinical development, and a morning session will be drilling down into the challenges and solutions available to drug developers during the design process.

Why not see how pioneering orphan biotech Prosensa are relentlessly driving their therapies through the clinic?

Or check out what our previous delegates view as the most significant challenges to designing a clinical trial for your orphan drug.

The rarity of the disease itself forces drug developers to evolve from traditional clinical development design, and generate compelling and significant data from small patient populations that portray value in both a regulatory and reimbursement context.

While all of drug development and the challenges are unique, especially in the field of rare diseases, we surveyed and accumulated a list of the major challenges faced by orphan drug developers during the design of their rare disease clinical trial:

• Establishing and validating clear endpoints for regulatory approval
• Transportation cost of patient enrolment (and their families)
• Lack of understanding of how and why patients might participate in the design phase
• Ability (and ethics) to run a controlled trial or have a robust control population against which to demonstrate benefit
• Overcoming patient availability, population size and its impact on development time
• The right outcome parameter
• How to engage with and harness scientific advice from regulatory authorities
• Aligning across a large number of sites.
• If another drug is available, is it still possible to conduct placebo controlled trials?
• Lack of knowledge of patient characteristics
• Accelerating escalating dose studies to establish therapeutic levels an any toxicity
• Cooperation of clinical investigators to lower costs of the study for small biotech

Here are some associated blogs that take these challenges further, provide possible solutions and display successful case studies to orphan drug clinical trial design.

Common mistakes to avoid during late stage #orphandrugs development

How Genzyme created the critical elements of orphan drug success

Hear how Lysogene discussed and validated their approach into clinical trials

Last week, I was incredibly blessed to attend and speak at the World Orphan Drug Congress USA. Why did I go? First, because of course I’ll take advantage of any opportunity to speak about Case since he’s so wonderful. Second, I feel a responsibility to represent Case and our boys since they cannot speak up for themselves. Pharma and government need to try to understand how rare disease affects children and their families, especially when it is a terminal, incurable disease with a short lifespan. And finally, I want to absorb and learn more about all of the issues that affect the rare disease community and the pharma and other industries that serve it. I feel that that deeper knowledge and connection to the entire community can only serve my son and others better.

With that being said, it was an immensely helpful conference. The attendance was great, the topics were often insightful, and the connections with representatives from other patient groups, pharma companies, and vendors will be long-lasting.

I promise this post will not be a dry rendering of conference material, and you will appreciate reading to the end.

Case was "speaking" with me as the first speaker of the 2012 US World Orphan Drug Congress USA

Case even made a number of appearances at the conference….. I confess, I cannot speak without a lovely picture or video of my son. So when asked to do so for my five minute speech, I could not bear to go on without him. So… what is better than a four-foot life-size cutout of an MPS child? Nothing, of course. Case stood with me for the entire speech, then made multiple appearances around the hotel (a la Flat Stanley, I’m told).

So here is my run-down of my experience at the 2012 World Orphan Drug Congress USA:

Tuesday: I left home on a 6am flight and arrived into BWI a little tired, took about an hour taxi drive (lots of traffic at morning rush hour) to the hotel, and was able to check in early. After a little prep time, I sauntered over (and when I say sauntered, I mean walked a …very…long…walk) to the conference area of the hotel to join the Siren Interactive folks for a workshop they prepared on Social Media and Rare Disease.

I was to be the patient speaker at the workshop and I have to say, the exercises really hit home to me as being in a family that self-diagnosed their child, a not uncommon group in rare disease. The participants began with a list of symptoms and were encouraged to use the internet as a means to diagnose their child and connect with others.

Case met John Crowley of Pompe Disease research and current CEO of Amicus Therapeutics, made famous in the book The Cure and the movie Extraordinary Measures

A flood of familiarity swept over me. I remember having that list of symptoms and searching the internet. You may or may not know that in the two years before Case was diagnosed, I did collect some of his symptoms and google for a result. Mostly at the suggestion of my mom, who wisely knew all along that something just didn’t add up. I googled what I thought were his main symptoms at the time – laryngomalacia, pectus excavatum, persistent pulmonary hypertension of a newborn (PPHN), and choking. Here I was, thinking that I was using the proper “doctor” terms to search and the result was nada.

The result is still nada.

Now, one might question whether each of these is indeed a symptom of MPS, but my experience with other families is that each definitely are. Laryngomalacia is a clear symptom of MPS and the choking is often a result of that. Pectus, while not listed in the normal grouping of symptoms is a bone malformation, which is a symptom, and I have seen significantly more pectus in our MPS children than in the regular population. PPHN and other lung complications at birth are also more common, although one might not see them in a list of symptoms.

So the exercise of searching for an answer really hit home with me.

Then I spoke to the participants about our diagnosis story with Case. First, his symptoms, how he was diagnosed, then the effect that diagnosis then has on your life, your family, and your schedule for the foreseeable future.

Then I spoke about our story with respect to social media. I had what I thought was a really cool timeline that showed how what I call “lightening events” like diagnosis, and entering a clinical trial spur you on to action, whether it be in social media, fundraising, awareness events, or via some other means.

Case was a fabulous greeter for the event

For me, it did create a flurry in social media, especially after Case entered the clinical trial. I spoke about how it felt urgent in me to share the experience since it was something our community had waited so long for and was so eager to see the results. Because another mom had shared her experience online, we were more willing to enter the trial.

So entering the trial rolled into a new blog, website revamp, Twitter, Pinterest, and the like. I think, and hope, that these connections have been helpful to others. I know they have to me.

The participants concluded their experience with additional work on connecting with providers and finding other resources online, as well as insightful thoughts from Wendy White (founder of Siren Interactive and a rare disease mom herself) and Eileen O’Brien.

This was a great introduction to the conference for me.

Tuesday closed out with a great dinner discussing the workshop and conference events with the Siren folks who had invited me to participate in the workshop. Great insights from that team.

Wednesday: I sure didn’t feel much pressure when I was asked to speak at the conference, especially a five-minute speech, right? But when it dawned on me that I was the first speaker and to be introduced by John Crowley no less, a legend in our field of parent fighters, I was a bit daunted. How do you inspire, motivate, share, and tell the wonderful story of your child in five minutes?

The answer is that you simply can’t.

Case even got to explore the amazing Gaylord National resort

I did the best job I could to explain why I see Case as a success story in progress. He was diagnosed early (although we could get a lot earlier, like say, newborn screening?), there was a treatment for his condition (less than 5% of rare diseases have specific treatments), his treatment is covered by insurance, and now he’s in a clinical trial that we sincerely hope will save his life.

But my point in all of that was this…. Why can’t we strive for that same success for all those suffering from rare diseases?

We need to build the newborn screening programs.

Greater funding needs to happen.

We need accelerated approval pathways for rare disease drugs.

Pharma companies need to continue to try to translate their research across platforms to other rare diseases so more treatments can be available.

We need to move from treatments to cures.

Flat Case meeting Flat Michael

I hope that my five minutes was valuable. Maybe all they did was stare at my cutout of Case and think of how cute he looked in his monogrammed doctor’s coat and stethoscope. If they did, that’s fine, as long as it made them think, “Wow, he’s doing so great. Let’s keep pushing so we can have the children themselves standing on this stage one day.”

I would love that.

I would love for Case to stand there and thank them for all their hard work, show them what it means to move from what many feel is a death sentence to a manageable condition.

If he can come with me to this event say, five years from now, that would be my goal.

So after me spoke Angus Russell, the CEO of Shire, the pharma company that makes and supplies Case’s intravenous drug, Elaprase, as well as his clinical trial drug, termed by me as Miracase. You can gather the meaning.

He spoke of the obligations of pharma companies to their patient populations and he, as well as the speaker after him, Mike Astrue, currently the Commissioner of the Social Security Administration, but formerly involved with TKT, the company that originally developed Elaprase and was acquired by Shire in 2005, spoke of the origins of Case’s intrathecal drug development.

Case thoroughly enjoyed the dancing fountains at the resort

It was fascinating to hear about the beginnings of something that has now changed our lives.

So this was only the beginning of the conference. There was much, much more and I encourage you to check my Tweets page to review and follow along with my thoughts at the time of the conference. There were several insightful moments from speakers.

But some of the best moments were ones not in the brochure.

I met Lori Sames from Hannah’s Hope Fund. Did you know they won two $250K Pepsi Challenges and are poised to begin human clinical trials for gene therapy for Giant Axonal Neuropathy, a condition that may affect only 25 people in the world?

I met Megan O’Boyle from the Phelan-McDermid Syndrome Foundation. Did you know she wears a shirt that says “PMS: It’s not what you think”? And did you know that she was so kind as to drive me around Arlington to pick up a few items?

I met Sharon Hesterlee from Parent Project Muscular Dystrophy. Did you know she has fantastic ideas about conferences and website resources?

I brainstormed with these strong and smart women about how we best focus our efforts to help our children. Is it better conferences? Is it every ounce striving and giving toward gene therapy? Is it a registry so we can better collect the data of our children’s condition? Is it advocacy and awareness via the web?

Playing hide and seek among the jungle

The answer is…

yes.

All of these moms, including myself, and the many other parents out there focus our efforts in different ways, and in the end, we’re all trying to provide better lives for our children and the children of others. This may come in the form of different efforts by different folks and different levels of time, funding, intensity, and direction, but we all have the same goal.

And that is why it didn’t matter that Lori’s daughter has GAN and not MPS, that Megan’s daughter has PMS, and not MPS. We are all the same. In the end, we are MOMS.

Siren Interactive

The World Orphan Drug Congress USA last week consisted of three days jam-packed with presentations and networking. While the event focused on rare diseases and orphan drugs, the scope was still wide and addressed issues ranging from pricing to patient registries to various country regulations.

The highlights for me were the patient/caregiver testimonies scattered throughout the conference which reminded everyone why we were in the room. The presentation by Yi-Ou Wang from the nonprofit organization China-Dolls Fund was especially powerful as she described the lack of social awareness and support for rare diseases in China.

I had the chance to talk with a few empowered caregivers: Melissa Hogan from Saving Case, Lori Sames from Hannah’s Hope Fund, and Kelli Foster from The Mastocytosis Society. I was also pleased to finally meet two legends within the rare disease industry: John Crowley from Amicus Therapeutics and Pat Furlong from Parent Project Muscular Dystrophy.

Harmonization
The theme that was woven through many of the presentations was the idea of harmony—the state of being in agreement. Kinnari Patel, Bristol-Myers Squibb, started the first day by noting that harmonization across all rare disease stakeholders is essential for success. There are a variety of levels of harmonization required, and many of the speakers are working on facilitating these partnerships.

Harmonization between companies
Eric Mosbrooker from Alexion and Mahesh Kolar of Pfizer both talked about the benefit of “big pharma” and small biotechs partnering to bring rare disease therapies to market. Kolar noted that larger pharmaceutical companies can offer global reach, regulatory and reimbursement expertise and manufacturing capabilities.

Harmonization around research
Dr. Nurjana Bachman, Children’s Hospital Boston, discussed that academic medical centers are a place where collaboration is happening between research and industry. She noted that academia is successfully getting involved much earlier with drug development.

What will it take to create a sustainable orphan drug system? Wills Hughes-Wilson, Swedish Orphan Biovitrum, felt that collaboration and cooperation were essential due to the small amounts of rare disease data.

Harmonization on patient registries
Chairing a panel on patient registries, Furlong noted that with multiple drug companies having their own private registries for the same disease it’s very confusing to patients. The panel discussed the benefits that can come from sharing data. According to Dr. Richard Moscicki, Genzyme would be willing to partner with others and collaborate on registries.

Harmonization between governments
Yann Le Cam, EURORDIS, said, “rare diseases are an international public health challenge and need international collaboration.” He talked about the need to have more coordination between the FDA and the EMA. He is part of an international team working on collaboration on policy guidelines. Also needed are rare disease treatment guidelines, access to specialists, and patient and clinical data.

Harmonization with patients
Hans Schikan, Prosensa, talked about the importance of communicating with patients when designing clinical trials. Megan O’Boyle echoed the cooperative feelings of other patients in the room: “We want to help pharma help our kids in any way we can. We will give you our data and help.” O’Boyle has spearheaded the formation of an international Phelan-McDermid Syndrome registry, which in one year has signed-up almost half the diagnosed individuals.

The conference left me with the feeling that there is much work to be done, but also the sense of how far we’ve come. Angus Russell commented that it’s time for an industry shift to put patients at the center, which is reflected in Shire’s tag line “To be as brave as the people we help.”

For more information on orphan drugs and rare diseases, check out the World Orphan Drug Congress USA. Siren Interactive was a silver sponsor of the 2012 event.